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	huntington disease

Disease ID	20
Disease	huntington disease
Definition	A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Synonym	chorea, chronic progressive hereditary chorea, chronic progressive hereditary (huntington) chorea, huntington chorea, huntington's chronic progressive chorea chronic progressive hereditary chorea chronic progressive hereditary chorea (huntington) hc - huntington chorea hd - huntington chorea huntington chorea huntington chronic progressive hereditary chorea huntington dis huntington disease [disease/finding] huntington's chorea huntington's chorea (disorder) huntington's disease huntington's disease (disorder) huntingtons chorea huntingtons dis huntingtons disease progressive chorea, chronic hereditary (huntington) progressive chorea, hereditary, chronic (huntington)
Orphanet	ORPHANET:399
OMIM	OMIM:143100
DOID	DOID:12858
ICD10	ICD10CM:G10
UMLS	C0020179
MeSH	D006816
SNOMED-CT	SNOMEDCT_US_2016_09_01:58756001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:33) C0497327 \| dementia \| 4 C0011570 \| depression \| 3 C0030567 \| parkinson's disease \| 2 C0033975 \| psychosis \| 2 C0524851 \| neurodegenerative disorders \| 2 C0679466 \| cognitive deficits \| 2 C0003467 \| anxiety \| 2 C0031099 \| periodontitis \| 1 C0085084 \| motor neuron disease \| 1 C0042075 \| urological disorders \| 1 C0001080 \| achondroplasia \| 1 C0007104 \| carcinoma of the breast \| 1 C0036341 \| schizophrenia \| 1 C0027849 \| neuroleptic malignant syndrome \| 1 C0037317 \| sleep disturbances \| 1 C0016719 \| friedreich's disease \| 1 C0042870 \| vitamin d defic \| 1 C0040188 \| tic disorders \| 1 C0011849 \| diabetes mellitus \| 1 C0003850 \| arteriosclerosis \| 1 C1134719 \| invasive ductal carcinoma of the breast \| 1 C0037317 \| sleep disturbance \| 1 C0524851 \| neurodegenerative disease \| 1 C0027765 \| neurological disorder \| 1 C0005586 \| bipolar affective disorder \| 1 C0497327 \| dementias \| 1 C0026846 \| muscle wasting \| 1 C0042870 \| vitamin d deficiency \| 1 C0027765 \| neurological disorders \| 1 C0018995 \| hemochromatosis \| 1 C0013384 \| dyskinesias \| 1 C0011847 \| diabetes \| 1 C0026769 \| multiple sclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 4129 \| MAOB \| CTD_human 6515 \| SLC2A3 \| ORPHANET 9131 \| AIFM1 \| CTD_human 4128 \| MAOA \| CTD_human 1827 \| RCAN1 \| CTD_human 56616 \| DIABLO \| CTD_human 4968 \| OGG1 \| CTD_human 1268 \| CNR1 \| CTD_human 2668 \| GDNF \| CTD_human 3064 \| HTT \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 51447 \| IP6K2 \| CTD_human 2166 \| FAAH \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:32) 135 \| ADORA2A \| CIPHER 2897 \| GRIK1 \| CIPHER 9001 \| HAP1 \| CIPHER 3065 \| HDAC1 \| CIPHER 3064 \| HTT \| CIPHER;CTD_human 5608 \| MAP2K6 \| CIPHER 9064 \| MAP3K6 \| CIPHER 5191 \| PEX7 \| CIPHER 246744 \| STH \| CIPHER 7345 \| UCHL1 \| CIPHER 627 \| BDNF \| CIPHER 2237 \| FEN1 \| CIPHER 2898 \| GRIK2 \| CIPHER 2903 \| GRIN2A \| CIPHER 2904 \| GRIN2B \| CIPHER 9446 \| GSTO1 \| CIPHER 119391 \| GSTO2 \| CIPHER 3073 \| HEXA \| CIPHER 3092 \| HIP1 \| CIPHER 57338 \| JPH3 \| CIPHER 6908 \| TBP \| CIPHER 23390 \| ZDHHC17 \| CIPHER 1827 \| RCAN1 \| CTD_human 4968 \| OGG1 \| CTD_human 4129 \| MAOB \| CTD_human 4128 \| MAOA \| CTD_human 1268 \| CNR1 \| CTD_human 51447 \| IP6K2 \| CTD_human 2668 \| GDNF \| CTD_human 2166 \| FAAH \| CTD_human 56616 \| DIABLO \| CTD_human 9131 \| AIFM1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:328) 171022 \| ABHD11-AS1 \| 1.931 \| DISEASES 64746 \| ACBD3 \| 1.554 \| DISEASES 8310 \| ACOX3 \| 1.311 \| DISEASES 60 \| ACTB \| 1.307 \| DISEASES 111 \| ADCY5 \| 1.467 \| DISEASES 135 \| ADORA2A \| 3.926 \| DISEASES 2334 \| AFF2 \| 3.223 \| DISEASES 10554 \| AGPAT1 \| 1.259 \| DISEASES 10768 \| AHCYL1 \| 1.158 \| DISEASES 199 \| AIF1 \| 1.089 \| DISEASES 203 \| AK1 \| 1.067 \| DISEASES 26993 \| AKAP8L \| 1.6 \| DISEASES 501 \| ALDH7A1 \| 1.619 \| DISEASES 200539 \| ANKRD23 \| 1.394 \| DISEASES 367 \| AR \| 3.629 \| DISEASES 22926 \| ATF6 \| 1.652 \| DISEASES 9474 \| ATG5 \| 2.49 \| DISEASES 10533 \| ATG7 \| 1.454 \| DISEASES 1822 \| ATN1 \| 3.956 \| DISEASES 6311 \| ATXN2 \| 2.854 \| DISEASES 4287 \| ATXN3 \| 5.074 \| DISEASES 6314 \| ATXN7 \| 3.988 \| DISEASES 6315 \| ATXN8OS \| 1.101 \| DISEASES 100379571 \| BACE1-AS \| 1.362 \| DISEASES 573 \| BAG1 \| 1.521 \| DISEASES 64919 \| BCL11B \| 3.035 \| DISEASES 10018 \| BCL2L11 \| 1.573 \| DISEASES 627 \| BDNF \| 5.705 \| DISEASES 497258 \| BDNF-AS \| 1.387 \| DISEASES 8678 \| BECN1 \| 2.549 \| DISEASES 103752586 \| BIRC6-AS2 \| 2.824 \| DISEASES 672 \| BRCA1 \| 1.212 \| DISEASES 714 \| C1QC \| 1.631 \| DISEASES 203228 \| C9orf72 \| 2.825 \| DISEASES 773 \| CACNA1A \| 3.148 \| DISEASES 782 \| CACNB1 \| 1.412 \| DISEASES 801 \| CALM1 \| 2.7 \| DISEASES 834 \| CASP1 \| 1.991 \| DISEASES 100506742 \| CASP12 \| 1.652 \| DISEASES 841 \| CASP8 \| 2.292 \| DISEASES 842 \| CASP9 \| 1.879 \| DISEASES 875 \| CBS \| 1.382 \| DISEASES 885 \| CCK \| 1.982 \| DISEASES 1020 \| CDK5 \| 2.834 \| DISEASES 1025 \| CDK9 \| 1.708 \| DISEASES 1103 \| CHAT \| 3.889 \| DISEASES 1132 \| CHRM4 \| 1.688 \| DISEASES 1180 \| CLCN1 \| 1.016 \| DISEASES 1268 \| CNR1 \| 3.847 \| DISEASES 1270 \| CNTF \| 4.051 \| DISEASES 1325 \| CORT \| 1.372 \| DISEASES 84701 \| COX4I2 \| 2.048 \| DISEASES 1349 \| COX7B \| 1.301 \| DISEASES 64506 \| CPEB1 \| 1.443 \| DISEASES 10814 \| CPLX2 \| 3.822 \| DISEASES 55313 \| CPPED1 \| 1.615 \| DISEASES 1385 \| CREB1 \| 3.856 \| DISEASES 1400 \| CRMP1 \| 1.356 \| DISEASES 1431 \| CS \| 1.259 \| DISEASES 10675 \| CSPG5 \| 2.557 \| DISEASES 1499 \| CTNNB1 \| 1.256 \| DISEASES 1506 \| CTRL \| 1.092 \| DISEASES 613212 \| CTXN3 \| 1.454 \| DISEASES 1565 \| CYP2D6 \| 1.611 \| DISEASES 117154 \| DACH2 \| 1.361 \| DISEASES 1639 \| DCTN1 \| 1.763 \| DISEASES 10540 \| DCTN2 \| 1.099 \| DISEASES 1641 \| DCX \| 2.899 \| DISEASES 1718 \| DHCR24 \| 1.728 \| DISEASES 79947 \| DHDDS \| 1.997 \| DISEASES 1719 \| DHFR \| 1.151 \| DISEASES 56616 \| DIABLO \| 1.187 \| DISEASES 23405 \| DICER1 \| 1.963 \| DISEASES 1739 \| DLG1 \| 1.17 \| DISEASES 1740 \| DLG2 \| 1.348 \| DISEASES 1741 \| DLG3 \| 1.149 \| DISEASES 28514 \| DLL1 \| 2.675 \| DISEASES 1743 \| DLST \| 1.07 \| DISEASES 1760 \| DMPK \| 1.231 \| DISEASES 3301 \| DNAJA1 \| 1.785 \| DISEASES 80331 \| DNAJC5 \| 2.206 \| DISEASES 1759 \| DNM1 \| 1.337 \| DISEASES 10059 \| DNM1L \| 2.934 \| DISEASES 1812 \| DRD1 \| 3.128 \| DISEASES 1813 \| DRD2 \| 3.218 \| DISEASES 79180 \| EFHD2 \| 1.311 \| DISEASES 2081 \| ERN1 \| 1.079 \| DISEASES 2128 \| EVX1 \| 1.131 \| DISEASES 2145 \| EZH1 \| 1.025 \| DISEASES 474383 \| F8A2 \| 3.612 \| DISEASES 8603 \| FAM193A \| 3.281 \| DISEASES 2258 \| FGF13 \| 1.563 \| DISEASES 2280 \| FKBP1A \| 1.323 \| DISEASES 642489 \| FKBP1C \| 1.419 \| DISEASES 91010 \| FMNL3 \| 1.155 \| DISEASES 2332 \| FMR1 \| 2.45 \| DISEASES 100126270 \| FMR1-AS1 \| 1.427 \| DISEASES 2290 \| FOXG1 \| 1.053 \| DISEASES 2309 \| FOXO3 \| 1.239 \| DISEASES 93986 \| FOXP2 \| 1.518 \| DISEASES 122786 \| FRMD6 \| 2.373 \| DISEASES 285527 \| FRYL \| 1.577 \| DISEASES 2512 \| FTL \| 2.786 \| DISEASES 2395 \| FXN \| 2.919 \| DISEASES 2571 \| GAD1 \| 1.83 \| DISEASES 2593 \| GAMT \| 1.001 \| DISEASES 2643 \| GCH1 \| 1.202 \| DISEASES 2668 \| GDNF \| 3.39 \| DISEASES 100861519 \| GDNF-AS1 \| 2.435 \| DISEASES 87769 \| GGACT \| 2.227 \| DISEASES 28964 \| GIT1 \| 2.171 \| DISEASES 9815 \| GIT2 \| 1.636 \| DISEASES 100132565 \| GOLGA8F \| 2.877 \| DISEASES 283768 \| GOLGA8G \| 2.877 \| DISEASES 2841 \| GPR18 \| 1.144 \| DISEASES 2827 \| GPR3 \| 1.027 \| DISEASES 9293 \| GPR52 \| 1.685 \| DISEASES 114928 \| GPRASP2 \| 1.894 \| DISEASES 9402 \| GRAP2 \| 1.519 \| DISEASES 2898 \| GRIK2 \| 3.103 \| DISEASES 2902 \| GRIN1 \| 1.767 \| DISEASES 2903 \| GRIN2A \| 3.224 \| DISEASES 116443 \| GRIN3A \| 2.344 \| DISEASES 2868 \| GRK4 \| 1.116 \| DISEASES 2870 \| GRK6 \| 1.084 \| DISEASES 146395 \| GSG1L \| 1.629 \| DISEASES 2932 \| GSK3B \| 2.03 \| DISEASES 2962 \| GTF2F1 \| 1.641 \| DISEASES 2963 \| GTF2F2 \| 1.636 \| DISEASES 2996 \| GYPE \| 3.225 \| DISEASES 3014 \| H2AFX \| 1.312 \| DISEASES 9555 \| H2AFY \| 2.214 \| DISEASES 9001 \| HAP1 \| 5.52 \| DISEASES 3052 \| HCCS \| 1.667 \| DISEASES 3065 \| HDAC1 \| 2.083 \| DISEASES 3066 \| HDAC2 \| 1.29 \| DISEASES 10013 \| HDAC6 \| 2.318 \| DISEASES 9734 \| HDAC9 \| 2.125 \| DISEASES 57801 \| HES4 \| 1.194 \| DISEASES 388585 \| HES5 \| 1.017 \| DISEASES 26275 \| HIBCH \| 1.095 \| DISEASES 3092 \| HIP1 \| 2.353 \| DISEASES 9456 \| HOMER1 \| 1.196 \| DISEASES 3208 \| HPCA \| 1.718 \| DISEASES 3297 \| HSF1 \| 3.442 \| DISEASES 3320 \| HSP90AA1 \| 2.586 \| DISEASES 3309 \| HSPA5 \| 1.817 \| DISEASES 3316 \| HSPB2 \| 1.852 \| DISEASES 3356 \| HTR2A \| 1.358 \| DISEASES 3363 \| HTR7 \| 1.969 \| DISEASES 3064 \| HTT \| 9.249 \| DISEASES 100750326 \| HTT-AS \| 3.073 \| DISEASES 25764 \| HYPK \| 4.566 \| DISEASES 3430 \| IFI35 \| 1.055 \| DISEASES 3551 \| IKBKB \| 1.309 \| DISEASES 8517 \| IKBKG \| 1.295 \| DISEASES 3725 \| JUN \| 1.656 \| DISEASES 3748 \| KCNC3 \| 1.435 \| DISEASES 3766 \| KCNJ10 \| 2.361 \| DISEASES 3792 \| KEL \| 1.152 \| DISEASES 8564 \| KMO \| 3.713 \| DISEASES 3841 \| KPNA5 \| 1.165 \| DISEASES 100506195 \| LARGE-AS1 \| 1.045 \| DISEASES 56956 \| LHX9 \| 1.236 \| DISEASES 26020 \| LRP10 \| 1.97 \| DISEASES 26046 \| LTN1 \| 2.007 \| DISEASES 4081 \| MAB21L1 \| 1.691 \| DISEASES 4128 \| MAOA \| 1.864 \| DISEASES 4129 \| MAOB \| 2.14 \| DISEASES 55201 \| MAP1S \| 1.077 \| DISEASES 4133 \| MAP2 \| 1.622 \| DISEASES 7786 \| MAP3K12 \| 1.252 \| DISEASES 4217 \| MAP3K5 \| 2.286 \| DISEASES 5602 \| MAPK10 \| 2.294 \| DISEASES 5599 \| MAPK8 \| 2.4 \| DISEASES 4137 \| MAPT \| 2.718 \| DISEASES 79006 \| METRN \| 2.243 \| DISEASES 4291 \| MLF1 \| 2.324 \| DISEASES 4508 \| MT-ATP6 \| 1.078 \| DISEASES 4513 \| MT-CO2 \| 1.17 \| DISEASES 92140 \| MTDH \| 1.412 \| DISEASES 2475 \| MTOR \| 2.661 \| DISEASES 4671 \| NAIP \| 1.207 \| DISEASES 4694 \| NDUFA1 \| 1.194 \| DISEASES 4697 \| NDUFA4 \| 1.154 \| DISEASES 283131 \| NEAT1 \| 1.029 \| DISEASES 79661 \| NEIL1 \| 1.274 \| DISEASES 10763 \| NES \| 1.888 \| DISEASES 4773 \| NFATC2 \| 1.201 \| DISEASES 4780 \| NFE2L2 \| 2.503 \| DISEASES 4803 \| NGF \| 3.397 \| DISEASES 7080 \| NKX2-1 \| 2.029 \| DISEASES 64802 \| NMNAT1 \| 1.382 \| DISEASES 349565 \| NMNAT3 \| 1.126 \| DISEASES 9241 \| NOG \| 1.88 \| DISEASES 317648 \| NOP14-AS1 \| 2.824 \| DISEASES 4842 \| NOS1 \| 2.753 \| DISEASES 147111 \| NOTUM \| 1.236 \| DISEASES 594857 \| NPS \| 3.252 \| DISEASES 9315 \| NREP \| 2.219 \| DISEASES 4905 \| NSF \| 1.237 \| DISEASES 4908 \| NTF3 \| 2.638 \| DISEASES 4914 \| NTRK1 \| 2.012 \| DISEASES 4521 \| NUDT1 \| 1.805 \| DISEASES 5063 \| PAK3 \| 1.171 \| DISEASES 5071 \| PARK2 \| 2.604 \| DISEASES 11315 \| PARK7 \| 2.044 \| DISEASES 64881 \| PCDH20 \| 1.192 \| DISEASES 5121 \| PCP4 \| 1.575 \| DISEASES 10846 \| PDE10A \| 5.135 \| DISEASES 5158 \| PDE6B \| 1.323 \| DISEASES 5179 \| PENK \| 4.075 \| DISEASES 5202 \| PFDN2 \| 2.958 \| DISEASES 5204 \| PFDN5 \| 2.743 \| DISEASES 5230 \| PGK1 \| 1.007 \| DISEASES 26227 \| PHGDH \| 1.74 \| DISEASES 128344 \| PIFO \| 1.198 \| DISEASES 65018 \| PINK1 \| 1.63 \| DISEASES 5309 \| PITX3 \| 1.246 \| DISEASES 5570 \| PKIB \| 1.402 \| DISEASES 5586 \| PKN2 \| 1.196 \| DISEASES 126520 \| PLK5 \| 1.661 \| DISEASES 10775 \| POP4 \| 1.54 \| DISEASES 5454 \| POU3F2 \| 1.578 \| DISEASES 55607 \| PPP1R9A \| 1.497 \| DISEASES 5521 \| PPP2R2B \| 1.614 \| DISEASES 5592 \| PRKG1 \| 1.139 \| DISEASES 5621 \| PRNP \| 2.693 \| DISEASES 55660 \| PRPF40A \| 3.584 \| DISEASES 25766 \| PRPF40B \| 2.519 \| DISEASES 5663 \| PSEN1 \| 1.884 \| DISEASES 5718 \| PSMD12 \| 1.579 \| DISEASES 23475 \| QPRT \| 3.028 \| DISEASES 401409 \| RAB19 \| 2.15 \| DISEASES 5886 \| RAD23A \| 1.816 \| DISEASES 146713 \| RBFOX3 \| 4.602 \| DISEASES 23186 \| RCOR1 \| 1.478 \| DISEASES 5970 \| RELA \| 1.138 \| DISEASES 6007 \| RHD \| 2.292 \| DISEASES 387 \| RHOA \| 1.34 \| DISEASES 64777 \| RMND5B \| 2.877 \| DISEASES 6093 \| ROCK1 \| 1.149 \| DISEASES 22895 \| RPH3A \| 2.101 \| DISEASES 57142 \| RTN4 \| 2.041 \| DISEASES 84324 \| SARNP \| 1.012 \| DISEASES 100861563 \| SCAANT1 \| 2.08 \| DISEASES 192683 \| SCAMP5 \| 2.033 \| DISEASES 51150 \| SDF4 \| 1.037 \| DISEASES 10507 \| SEMA4D \| 1.009 \| DISEASES 29072 \| SETD2 \| 1.89 \| DISEASES 6446 \| SGK1 \| 1.211 \| DISEASES 54557 \| SGTB \| 1.845 \| DISEASES 6457 \| SH3GL3 \| 3.819 \| DISEASES 56961 \| SHD \| 2.079 \| DISEASES 25942 \| SIN3A \| 1.326 \| DISEASES 23410 \| SIRT3 \| 2.835 \| DISEASES 23408 \| SIRT5 \| 2.05 \| DISEASES 51548 \| SIRT6 \| 2.073 \| DISEASES 51547 \| SIRT7 \| 2.016 \| DISEASES 4891 \| SLC11A2 \| 1.05 \| DISEASES 6572 \| SLC18A3 \| 1.211 \| DISEASES 9962 \| SLC23A2 \| 1.335 \| DISEASES 2030 \| SLC29A1 \| 1.68 \| DISEASES 144195 \| SLC2A14 \| 1.223 \| DISEASES 23583 \| SMUG1 \| 1.982 \| DISEASES 6622 \| SNCA \| 3.697 \| DISEASES 692223 \| SNORD97 \| 3.688 \| DISEASES 64089 \| SNX16 \| 1.535 \| DISEASES 6648 \| SOD2 \| 1.287 \| DISEASES 6657 \| SOX2 \| 1.493 \| DISEASES 6667 \| SP1 \| 2.02 \| DISEASES 6683 \| SPAST \| 1.061 \| DISEASES 399473 \| SPRED3 \| 1.979 \| DISEASES 8878 \| SQSTM1 \| 2.698 \| DISEASES 6721 \| SREBF2 \| 1.554 \| DISEASES 246329 \| STAC3 \| 1.33 \| DISEASES 6788 \| STK3 \| 1.006 \| DISEASES 11075 \| STMN2 \| 1.45 \| DISEASES 85369 \| STRIP1 \| 1.898 \| DISEASES 7341 \| SUMO1 \| 1.346 \| DISEASES 646658 \| SYNDIG1L \| 3.036 \| DISEASES 132204 \| SYNPR \| 1.658 \| DISEASES 6863 \| TAC1 \| 4.323 \| DISEASES 6942 \| TCF20 \| 1.779 \| DISEASES 6949 \| TCOF1 \| 1.974 \| DISEASES 6999 \| TDO2 \| 1.872 \| DISEASES 7019 \| TFAM \| 2.489 \| DISEASES 7037 \| TFRC \| 1.204 \| DISEASES 7052 \| TGM2 \| 3.3 \| DISEASES 7054 \| TH \| 2.813 \| DISEASES 51643 \| TMBIM4 \| 1.11 \| DISEASES 84548 \| TMEM185A \| 2.073 \| DISEASES 79089 \| TMUB2 \| 2.15 \| DISEASES 7124 \| TNF \| 1.281 \| DISEASES 9804 \| TOMM20 \| 1.404 \| DISEASES 51399 \| TRAPPC4 \| 1.528 \| DISEASES 89122 \| TRIM4 \| 1.425 \| DISEASES 706 \| TSPO \| 1.771 \| DISEASES 7317 \| UBA1 \| 1.768 \| DISEASES 7311 \| UBA52 \| 2.109 \| DISEASES 10477 \| UBE2E3 \| 1.383 \| DISEASES 7337 \| UBE3A \| 1.752 \| DISEASES 29979 \| UBQLN1 \| 3.122 \| DISEASES 29978 \| UBQLN2 \| 2.751 \| DISEASES 50613 \| UBQLN3 \| 2.017 \| DISEASES 56893 \| UBQLN4 \| 1.829 \| DISEASES 101410542 \| UCHL1-AS1 \| 2.232 \| DISEASES 23376 \| UFL1 \| 1.449 \| DISEASES 8408 \| ULK1 \| 1.818 \| DISEASES 6843 \| VAMP1 \| 1.662 \| DISEASES 7415 \| VCP \| 2.582 \| DISEASES 23230 \| VPS13A \| 4.307 \| DISEASES 51028 \| VPS36 \| 1.885 \| DISEASES 7444 \| VRK2 \| 1.838 \| DISEASES 23038 \| WDTC1 \| 1.898 \| DISEASES 63929 \| XPNPEP3 \| 1.547 \| DISEASES 7514 \| XPO1 \| 1.253 \| DISEASES 2547 \| XRCC6 \| 1.446 \| DISEASES 84885 \| ZDHHC12 \| 2.3 \| DISEASES 54503 \| ZDHHC13 \| 3.976 \| DISEASES 79683 \| ZDHHC14 \| 1.34 \| DISEASES 158866 \| ZDHHC15 \| 1.798 \| DISEASES 23390 \| ZDHHC17 \| 5.113 \| DISEASES 29801 \| ZDHHC8 \| 1.154 \| DISEASES 51114 \| ZDHHC9 \| 1.231 \| DISEASES 55893 \| ZNF395 \| 2.766 \| DISEASES 83744 \| ZNF484 \| 2.17 \| DISEASES 54764 \| ZRANB1 \| 2.18 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) SLC2A3 \| 12p13.31 HTT \| 4p16.3

Disease ID	20
Disease	huntington disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0002353 \| EEG abnormality HP:0000708 \| Behavioral abnormality HP:0001257 \| Spasticity HP:0001608 \| Abnormality of the voice HP:0100022 \| Abnormality of movement HP:0000726 \| Dementia HP:0002120 \| Cerebral cortical atrophy HP:0002376 \| Developmental regression
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:40) HP:0002072 \| Chorea \| 19 HP:0002180 \| Neurodegeneration \| 14 HP:0100543 \| Cognitive deficits \| 6 HP:0000726 \| Dementia \| 4 HP:0000741 \| Apathy \| 4 HP:0004305 \| Involuntary muscle contractions \| 3 HP:0003287 \| Abnormality of mitochondrial metabolism \| 3 HP:0000716 \| Depression \| 3 HP:0002015 \| Swallowing difficulty \| 3 HP:0001268 \| Mental deterioration \| 3 HP:0002459 \| Dysautonomia \| 2 HP:0000709 \| Psychosis \| 2 HP:0000737 \| Irritability \| 2 HP:0000739 \| Anxiety \| 2 HP:0100022 \| Movement disorder \| 2 HP:0002527 \| Falls \| 2 HP:0001824 \| Weight loss \| 2 HP:0002529 \| Neuronal loss in central nervous system \| 2 HP:0040140 \| Degeneration of the striatum \| 1 HP:0002340 \| Caudate atrophy \| 1 HP:0000713 \| Agitation \| 1 HP:0002167 \| Speech disorder \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002172 \| Postural instability \| 1 HP:0002463 \| Language impairment \| 1 HP:0100033 \| Tic disorder \| 1 HP:0007123 \| Subcortical dementia \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0002634 \| Arteriosclerosis \| 1 HP:0002375 \| Decreased spontaneous movement \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0001317 \| Abnormality of the cerebellum \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002354 \| Memory loss \| 1 HP:0100753 \| Schizophrenia \| 1

Disease ID	20
Disease	huntington disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C2364072 \| depression C0851578 \| sleep disturbances C0686347 \| tardive dyskinesia C0575081 \| gait abnormalities C0525041 \| cognitive symptoms C0525041 \| cognitive manifestations C0497327 \| dementia C0427086 \| involuntary movements C0426980 \| motor symptoms C0240805 \| prodrome C0235946 \| brain atrophy C0235031 \| neurological symptoms C0233401 \| psychiatric symptoms C0028768 \| obsessive compulsive disorder C0026650 \| movement disorder C0023015 \| language disorders C0011849 \| diabetes mellitus C0008489 \| chorea
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:21) C0008489 \| chorea \| 17 C0426980 \| motor symptoms \| 6 C0233401 \| psychiatric symptoms \| 4 C0497327 \| dementia \| 4 C0085632 \| apathy \| 4 C0011570 \| depression \| 3 C0427086 \| involuntary movements \| 3 C0011168 \| dysphagia \| 3 C0234131 \| motor dysfunction \| 2 C0033975 \| psychosis \| 2 C0679466 \| cognitive deficits \| 2 C0086132 \| depressive symptoms \| 2 C0871189 \| psychotic symptoms \| 2 C0003467 \| anxiety \| 2 C0235031 \| neurological symptoms \| 1 C0525041 \| cognitive symptoms \| 1 C0026650 \| movement disorder \| 1 C0221163 \| motor disorders \| 1 C0026650 \| movement disorders \| 1 C0524851 \| neurodegenerative disorder \| 1 C0086439 \| hypokinesia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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Text Mining Genotype(Total Genotypes:0)
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All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	16202123	7157	TP53	umls:C0020179	BeFree	Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD).	0.003538676	2005	TP53	17	7676154	G	T,C
rs1052133	19857538	4968	OGG1	umls:C0020179	BeFree	In the present study, performed on blood DNA from 91 HD subjects, we observed that bearers of the mutant Cys326 allele (Ser326Cys+Cys326Cys) tend to have an increased number of CAG repeats of the expanded HD allele (P=0.049); moreover bearers of at least one copy of the mutant Cys326 allele, mainly heterozygous subjects, showed a significant (P=0.041) earlier disease onset than Ser326Ser wild-type individuals, suggesting a possible role of the hOGG1 Ser326Cys polymorphism in HD phenotype.	0.123181358	2010	OGG1;CAMK1	3	9757089	C	G
rs11540654	16202123	7157	TP53	umls:C0020179	BeFree	Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD).	0.003538676	2005	TP53	17	7676040	C	T,G,A
rs1207568	19119257	9365	KL	umls:C0020179	BeFree	We investigated the relationship between the klotho G-395A polymorphism and early dysfunction in vascular access in HD patients.	0.000542884	2008	KL;LOC101927403	13	33016046	G	A
rs1207568	19690404	9365	KL	umls:C0020179	BeFree	KLOTHO gene SNPs G-395A and C1818T are associated with low-density lipoprotein cholesterol and uric acid in HD patients.	0.000542884	2009	KL;LOC101927403	13	33016046	G	A
rs1801131	16372906	4524	MTHFR	umls:C0020179	BeFree	Recently, suggestive association has been reported between a single nucleotide polymorphism (SNP; rs1801131, also known as A1298C) in the methyltetrahydrofolate reductase (MTHFR) gene and AO of HD.	0.00827274	2005	MTHFR	1	11794419	T	G
rs1805015	23462527	3596	IL13	umls:C0020179	BeFree	We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleukin 13 gene (IL13) rs20541 polymorphisms and the development of antibodies to hepatitis B surface antigen (anti-HBs) in the case of hepatitis B virus (HBV) vaccination or infection in hemodialysis (HD) patients.	0.000542884	2013	IL4R	16	27362859	T	C
rs1805015	23462527	3566	IL4R	umls:C0020179	BeFree	We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleukin 13 gene (IL13) rs20541 polymorphisms and the development of antibodies to hepatitis B surface antigen (anti-HBs) in the case of hepatitis B virus (HBV) vaccination or infection in hemodialysis (HD) patients.	0.000271442	2013	IL4R	16	27362859	T	C
rs193922950	NA	3064	HTT	umls:C0020179	CLINVAR	NA	0.703824291	NA	NA	NA	NA	NA	NA
rs193922951	NA	3064	HTT	umls:C0020179	CLINVAR	NA	0.703824291	NA	NA	NA	NA	NA	NA
rs20541	23462527	3566	IL4R	umls:C0020179	BeFree	We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleukin 13 gene (IL13) rs20541 polymorphisms and the development of antibodies to hepatitis B surface antigen (anti-HBs) in the case of hepatitis B virus (HBV) vaccination or infection in hemodialysis (HD) patients.	0.000271442	2013	IL13	5	132660272	A	G
rs20541	23462527	3596	IL13	umls:C0020179	BeFree	We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleukin 13 gene (IL13) rs20541 polymorphisms and the development of antibodies to hepatitis B surface antigen (anti-HBs) in the case of hepatitis B virus (HBV) vaccination or infection in hemodialysis (HD) patients.	0.000542884	2013	IL13	5	132660272	A	G
rs2273773	22200427	23411	SIRT1	umls:C0020179	BeFree	This study aimed to investigate the association of SIRT 1 gene single-nucleotide polymorphisms, namely, rs7895833, rs7069102, and rs2273773 with lipid profiles and coronary artery calcification score in 219 Japanese hemodialysis (HD) patients.	0.000542884	2012	SIRT1	10	67906841	T	C
rs35652124	24904228	4780	NFE2L2	umls:C0020179	BeFree	This study aimed to investigate the association of Nrf2 gene single nucleotide polymorphisms (SNPs), rs35652124 (-653A/G) and rs6721961 (-617C/A), with laboratory data and mortality in hemodialysis (HD) patients.	0.080542884	2014	NFE2L2	2	177265345	T	C
rs386572987	20185929	2739	GLO1	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	NA	NA	NA	NA	NA
rs386572987	20185929	177	AGER	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	NA	NA	NA	NA	NA
rs386572987	20185929	5891	MOK	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	NA	NA	NA	NA	NA
rs386572987	20185929	101669765	LINC00914	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	NA	NA	NA	NA	NA
rs397507444	16372906	4524	MTHFR	umls:C0020179	BeFree	Recently, suggestive association has been reported between a single nucleotide polymorphism (SNP; rs1801131, also known as A1298C) in the methyltetrahydrofolate reductase (MTHFR) gene and AO of HD.	0.00827274	2005	MTHFR	1	11794407	T	G
rs4746	20185929	5891	MOK	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	GLO1	6	38682852	T	G
rs4746	20185929	2739	GLO1	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	GLO1	6	38682852	T	G
rs4746	20185929	101669765	LINC00914	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	GLO1	6	38682852	T	G
rs4746	20185929	177	AGER	umls:C0020179	BeFree	The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states.	0.000542884	2010	GLO1	6	38682852	T	G
rs6721961	24904228	4780	NFE2L2	umls:C0020179	BeFree	This study aimed to investigate the association of Nrf2 gene single nucleotide polymorphisms (SNPs), rs35652124 (-653A/G) and rs6721961 (-617C/A), with laboratory data and mortality in hemodialysis (HD) patients.	0.080542884	2014	NFE2L2	2	177265309	T	C,G
rs7069102	22200427	23411	SIRT1	umls:C0020179	BeFree	This study aimed to investigate the association of SIRT 1 gene single-nucleotide polymorphisms, namely, rs7895833, rs7069102, and rs2273773 with lipid profiles and coronary artery calcification score in 219 Japanese hemodialysis (HD) patients.	0.000542884	2012	SIRT1	10	67903362	C	G
rs7895833	22200427	23411	SIRT1	umls:C0020179	BeFree	This study aimed to investigate the association of SIRT 1 gene single-nucleotide polymorphisms, namely, rs7895833, rs7069102, and rs2273773 with lipid profiles and coronary artery calcification score in 219 Japanese hemodialysis (HD) patients.	0.000542884	2012	NA	10	67863299	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001608	Abnormality of the voice	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0100022	Abnormality of movement	MP:0005223	abnormal dorsal-ventral polarity of the somites	anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
HP:0002120	Cerebral cortical atrophy	MP:0012506	brain atrophy	acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100022	Abnormality of movement	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000726	Dementia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001257	Spasticity	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002120	Cerebral cortical atrophy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001608	Abnormality of the voice	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0002376	Developmental regression	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0002353	EEG abnormality	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000708	Behavioral abnormality	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division

Disease ID	20
Disease	huntington disease
Case	(Waiting for update.)